A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12369



Internal ID9974782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99391923..99522641hg38UCSC Ensembl
Innerchr8:100404151..100534869hg19UCSC Ensembl
Innerchr8:100473327..100604045hg18UCSC Ensembl
Innerchr8:100473327..100604045hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38130719
hg19130719
hg18130719
hg17130719
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758167
Supporting Variants
SamplesNA19138
Known GenesVPS13B
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv12369
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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